Search Results
You are looking at 1 - 1 of 1 items for :
- Author: Claudia Giavoli x
- Paediatric Endocrinology x
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Martine Cools
Martine Cools
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
Search for other papers by Martine Cools in
Google Scholar
PubMed
Search for other papers by Martine Cools in
Google Scholar
PubMed
Stamatina Ioakim
Stamatina Ioakim
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Search for other papers by Stamatina Ioakim in
Google Scholar
PubMed
Search for other papers by Stamatina Ioakim in
Google Scholar
PubMed
S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
Search for other papers by S Faisal Ahmed in
Google Scholar
PubMed
Search for other papers by S Faisal Ahmed in
Google Scholar
PubMed
Silvia Andonova
Silvia Andonova
National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria
Search for other papers by Silvia Andonova in
Google Scholar
PubMed
Search for other papers by Silvia Andonova in
Google Scholar
PubMed
Magdalena Avbelj-Stefanija
Magdalena Avbelj-Stefanija
Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
Search for other papers by Magdalena Avbelj-Stefanija in
Google Scholar
PubMed
Search for other papers by Magdalena Avbelj-Stefanija in
Google Scholar
PubMed
Federico Baronio
Federico Baronio
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Jerome Bouligand
Jerome Bouligand
Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France
Search for other papers by Jerome Bouligand in
Google Scholar
PubMed
Search for other papers by Jerome Bouligand in
Google Scholar
PubMed
Hennie T Bruggenwirth
Hennie T Bruggenwirth
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Search for other papers by Hennie T Bruggenwirth in
Google Scholar
PubMed
Search for other papers by Hennie T Bruggenwirth in
Google Scholar
PubMed
Justin H Davies
Justin H Davies
Faculty of Medicine, University of Southampton, Southampton, United Kingdom
Search for other papers by Justin H Davies in
Google Scholar
PubMed
Search for other papers by Justin H Davies in
Google Scholar
PubMed
Elfride De Baere
Elfride De Baere
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
Search for other papers by Elfride De Baere in
Google Scholar
PubMed
Search for other papers by Elfride De Baere in
Google Scholar
PubMed
Iveta Dzivite-Krisane
Iveta Dzivite-Krisane
Children’s University Hospital, Riga, Latvia
Search for other papers by Iveta Dzivite-Krisane in
Google Scholar
PubMed
Search for other papers by Iveta Dzivite-Krisane in
Google Scholar
PubMed
Paula Fernandez-Alvarez
Paula Fernandez-Alvarez
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
Search for other papers by Paula Fernandez-Alvarez in
Google Scholar
PubMed
Search for other papers by Paula Fernandez-Alvarez in
Google Scholar
PubMed
Alexander Gheldof
Alexander Gheldof
Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium
Search for other papers by Alexander Gheldof in
Google Scholar
PubMed
Search for other papers by Alexander Gheldof in
Google Scholar
PubMed
Claudia Giavoli
Claudia Giavoli
Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by Claudia Giavoli in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by Claudia Giavoli in
Google Scholar
PubMed
Claus H Gravholt
Claus H Gravholt
Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark
Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Olaf Hiort
Olaf Hiort
University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany
Search for other papers by Olaf Hiort in
Google Scholar
PubMed
Search for other papers by Olaf Hiort in
Google Scholar
PubMed
Paul-Martin Holterhus
Paul-Martin Holterhus
University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
Search for other papers by Paul-Martin Holterhus in
Google Scholar
PubMed
Search for other papers by Paul-Martin Holterhus in
Google Scholar
PubMed
Anders Juul
Anders Juul
Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
Search for other papers by Anders Juul in
Google Scholar
PubMed
Csilla Krausz
Csilla Krausz
Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
Search for other papers by Csilla Krausz in
Google Scholar
PubMed
Search for other papers by Csilla Krausz in
Google Scholar
PubMed
Kristina Lagerstedt-Robinson
Kristina Lagerstedt-Robinson
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Kristina Lagerstedt-Robinson in
Google Scholar
PubMed
Search for other papers by Kristina Lagerstedt-Robinson in
Google Scholar
PubMed
Ruth McGowan
Ruth McGowan
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
Search for other papers by Ruth McGowan in
Google Scholar
PubMed
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
Search for other papers by Ruth McGowan in
Google Scholar
PubMed
Uta Neumann
Uta Neumann
Charité Medicine University, Berlin, Germany
Search for other papers by Uta Neumann in
Google Scholar
PubMed
Search for other papers by Uta Neumann in
Google Scholar
PubMed
Antonio Novelli
Antonio Novelli
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
Search for other papers by Antonio Novelli in
Google Scholar
PubMed
Search for other papers by Antonio Novelli in
Google Scholar
PubMed
Xavier Peyrassol
Xavier Peyrassol
Universitè Libre di Bruxelles, Brussels, Belgium
Search for other papers by Xavier Peyrassol in
Google Scholar
PubMed
Search for other papers by Xavier Peyrassol in
Google Scholar
PubMed
Leonidas A Phylactou
Leonidas A Phylactou
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Search for other papers by Leonidas A Phylactou in
Google Scholar
PubMed
Search for other papers by Leonidas A Phylactou in
Google Scholar
PubMed
Julia Rohayem
Julia Rohayem
University Hospital Münster, Munster, Germany
Search for other papers by Julia Rohayem in
Google Scholar
PubMed
Search for other papers by Julia Rohayem in
Google Scholar
PubMed
Philippe Touraine
Philippe Touraine
Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France
Search for other papers by Philippe Touraine in
Google Scholar
PubMed
Search for other papers by Philippe Touraine in
Google Scholar
PubMed
Dineke Westra
Dineke Westra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Search for other papers by Dineke Westra in
Google Scholar
PubMed
Search for other papers by Dineke Westra in
Google Scholar
PubMed
Valeria Vezzoli
Valeria Vezzoli
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Valeria Vezzoli in
Google Scholar
PubMed
Search for other papers by Valeria Vezzoli in
Google Scholar
PubMed
Raffaella Rossetti
Raffaella Rossetti
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Raffaella Rossetti in
Google Scholar
PubMed
Search for other papers by Raffaella Rossetti in
Google Scholar
PubMed
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches.
